News tagged with genetic diseases

Researchers complete largest genetic sequencing study of human disease

Researchers from Queen Mary, University of London have led the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.

Genetics created May 22, 2013 | popularity 4.5 / 5 (4) | comments 0 | with audio podcast

Hitting 'reset' in protein synthesis restores myelination, suggests new treatment for misfolded protein diseases

(Medical Xpress)—A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalo's Hunter James ...

Medical research created Apr 26, 2013 | popularity 4.3 / 5 (4) | comments 0 | with audio podcast

Cancer drug prevents build-up of toxic brain protein

Researchers at Georgetown University Medical Center have used tiny doses of a leukemia drug to halt accumulation of toxic proteins linked to Parkinson's disease in the brains of mice. This finding provides the basis to plan ...

Genetics created May 10, 2013 | popularity 5 / 5 (3) | comments 0 | with audio podcast

Newly described type of immune cell and T cells share similar path to maturity, according to new study

(Medical Xpress)—Labs around the world, and a core group at Penn, have been studying recently described populations of immune cells called innate lymphoid cells (ILCs). Some researchers liken them to foot soldiers that ...

Immunology created May 14, 2013 | popularity 5 / 5 (3) | comments 0 | with audio podcast

Low HDL-cholesterol—Not quantity, but quality

Many of the genes regulating the inflammation and immune response of the body are also associated with low HDL-cholesterol levels in the circulation, tells the recent study conducted at the University of ...

Cardiology created Apr 30, 2013 | popularity 5 / 5 (2) | comments 0

Investigating devastating childhood diseases just got easier

Induced pluripotent stem cells (iPScs) from the skin of patients with Dravet syndrome (DS) show Dravet-like functional impairment when they are converted into neurons, finds research in BioMed Central's open ...

Medical research created May 01, 2013 | popularity 5 / 5 (2) | comments 0

Gene discoveries give hope against 'Brittle bone' disease

(HealthDay)—Mutations in a gene involved in bone development appear to cause certain severe forms of bone loss, a finding that could lead to new therapies for the common bone-thinning disorder osteoporosis, ...

Genetics created May 08, 2013 | popularity 5 / 5 (2) | comments 0

Stem cell researchers move toward treatment for rare genetic nerve disease

(Medical Xpress)—UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease-in-a-dish modeling of a rare genetic ...

Diseases, Conditions, Syndromes created May 10, 2013 | popularity 5 / 5 (2) | comments 0 | with audio podcast

Mystery disease solved by gene experts

(Medical Xpress)—A global team of researchers has identified the gene behind an Australian toddler's paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other ...

Genetics created May 03, 2013 | popularity 4.5 / 5 (2) | comments 1 | with audio podcast

Four genes indentified that influence levels of 'bad' cholesterol

Scientists at the Texas Biomedical Research Institute in San Antonio have identified four genes in baboons that influence levels of "bad" cholesterol. This discovery could lead to the development of new drugs to reduce the ...

Medical research created May 15, 2013 | popularity 4.5 / 5 (2) | comments 0 | with audio podcast

No evidence of lyme disease in children with autism

(HealthDay)—A new study failed to find any evidence to back up a suggested association between Lyme disease and autism spectrum disorders.

Autism spectrum disorders created Apr 30, 2013 | popularity 3 / 5 (2) | comments 0 | with audio podcast

Discovery of gene involved in fatty liver disease

An international research consortium led by CIC bioGUNE has discovered the involvement of a gene in the development of non-alcoholic fatty liver disease (NAFLD). Although the gene concerned (SLC2A1) had never previously been ...

Genetics created Apr 24, 2013 | popularity 5 / 5 (1) | comments 0

Using genetic variants to improve PSA testing technique and reduce biopsies

With the help of genetics, prostate specific antigen (PSA) screenings may become more accurate and reduce the number of unnecessary prostate biopsies, according to a new study from Northwestern Medicine.

Cancer created Apr 24, 2013 | popularity 5 / 5 (1) | comments 0

Drugs without side effects: Researchers explore novel ways to classify proteins

Janelle Leuthaeuser is on the cutting edge of biophysics. A molecular genetics and genomics Ph.D. student, she is part of a nationwide effort to create a more efficient generation of protein-based drugs.

Medical research created Apr 26, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Gene associated with adolescent idiopathic scoliosis identified

Researchers from the RIKEN Center for Integrative Medical Sciences in Japan have identified the first gene to be associated with adolescent idiopathic scoliosis (also called AIS) across Asian and Caucasian ...

Genetics created May 12, 2013 | popularity 5 / 5 (1) | comments 0 | with audio podcast

Genetic disorder

A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments. A haploid cell has only one set of chromosomes. A diploid cell has two sets of chromosomes. In human, the somatic cells are diploid, and the gametes are haploid.

Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients.[citation needed]

For more information about Genetic disorder, read the full article at Wikipedia.
This text uses material from Wikipedia and is available under the GNU Free Documentation License.

Related topics: genes , genome